DISEASES

Disease-gene associations mined from literature

Human genes for distal hereditary motor neuronopathy type 1

Distal hereditary motor neuronopathy type 1 [DOID:0111200]

An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region.

Synonyms:  distal hereditary motor neuronopathy type 1,  DOID:0111200,  distal familial motor neuronopathy type 1,  HMN I,  autosomal dominant distal juvenile spinal muscular atrophy type 1 ...